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Genetics Home Reference: Bartter syndrome

Posted Feb 07 2011 1:28pm
Reviewed February 2011

What is Bartter syndrome?

Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.

In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth.

Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness).

Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.

How common is Bartter syndrome?

The exact prevalence of this disorder is unknown, although it likely affects about 1 per million people worldwide. The condition appears to be more common in Costa Rica and Kuwait than in other populations.

What genes are related to Bartter syndrome?

Bartter syndrome can be caused by mutations in at least five genes. Mutations in the SLC12A1 gene cause type I. Type II results from mutations in the KCNJ1 gene. Mutations in the CLCNKB gene are responsible for type III. Type IV can result from mutations in the BSND gene or from a combination of mutations in the CLCNKA and CLCNKB genes.

The genes associated with Bartter syndrome play important roles in normal kidney function. The proteins produced from these genes are involved in the kidneys' reabsorption of salt. Mutations in any of the five genes impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other charged atoms (ions), including potassium and calcium. The resulting imbalance of ions in the body leads to the major features of Bartter syndrome.

In some people with Bartter syndrome, the genetic cause of the disorder is unknown. Researchers are searching for additional genes that may be associated with this condition.

Read more about the BSND , CLCNKA , CLCNKB , KCNJ1 , and SLC12A1 genes.

How do people inherit Bartter syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis, management, or treatment of Bartter syndrome?

These resources address the diagnosis or management of Bartter syndrome and may include treatment providers.

You might also find information on the diagnosis or management of Bartter syndrome in Educational resources and Patient support .

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about Bartter syndrome?

You may find the following resources about Bartter syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

  • Gene Tests - DNA tests ordered by healthcare professionals (5 links)
  • ClinicalTrials.govThis link leads to a site outside Genetics Home Reference. - Linking patients to medical research
  • PubMedThis link leads to a site outside Genetics Home Reference. - Recent literature
  • OMIM - Genetic disorder catalog (5 links)

What other names do people use for Bartter syndrome?

  • aldosteronism with hyperplasia of the adrenal cortex
  • Bartter disease
  • Bartter's syndrome
  • juxtaglomerular hyperplasia with secondary aldosteronism

What if I still have specific questions about Bartter syndrome?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding Bartter syndrome?

adrenal cortex  ; atom  ; autosomal  ; autosomal recessive  ; calcium  ; cell  ; chloride  ; constipation  ; dehydration  ; failure to thrive  ; fetus  ; gene  ; hyperplasia  ; hypokalemia  ; ions  ; kidney  ; molecule  ; mutation  ; osteopenia  ; polyuria  ; population  ; potassium  ; prevalence  ; protein  ; recessive  ; sensorineural  ; sign  ; sodium  ; sodium chloride  ; symptom  ; syndrome  ; tissue  ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary .

See also Understanding Medical Terminology .

References (4 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

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